Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 GermlineCausalMutation disease ORPHANET MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. 25048963 2014
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.400 CausalMutation disease CLINVAR
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 GermlineCausalMutation disease ORPHANET MCIDAS mutant respiratory epithelial cells carry only one or two cilia per cell, which lack ciliary motility-related proteins (DNAH5; CCDC39) as seen in primary ciliary dyskinesia. 25048963 2014
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		0.310 Biomarker disease BEFREE MCIDAS mutant respiratory epithelial cells carry only one or two cilia per cell, which lack ciliary motility-related proteins (DNAH5; CCDC39) as seen in primary ciliary dyskinesia. 25048963 2014
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.310 GermlineCausalMutation disease ORPHANET MCIDAS mutant respiratory epithelial cells carry only one or two cilia per cell, which lack ciliary motility-related proteins (DNAH5; CCDC39) as seen in primary ciliary dyskinesia. 25048963 2014
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.310 Biomarker disease BEFREE MCIDAS mutant respiratory epithelial cells carry only one or two cilia per cell, which lack ciliary motility-related proteins (DNAH5; CCDC39) as seen in primary ciliary dyskinesia. 25048963 2014
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis 		0.300 GermlineCausalMutation disease ORPHANET MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. 25048963 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE Overall, 111 patients (44 males, 67 females) with mild a-MCI (n = 64) or mild AD (n = 47) were included. 30588827 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE In fact, although both a-MCI and AD patients showed a similar pattern of impairment on the free recall test, a-MCI patients were able to normalise their performance on the recognition test, thus overcoming their deficits at the time of recall. 31571005 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE Cox regression analyses were used to determine whether 3-year slopes on the preclinical Alzheimer's cognitive composite predicted MCI diagnosis and global Clinical Dementia Rating>0 in 267 Aβ+ CN individuals participating in the Harvard Aging Brain Study, Australian Imaging, Biomarker and Lifestyle Study, and Alzheimer's Disease Neuroimaging Initiative. 31759879 2020
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.100 GeneticVariation disease BEFREE After 5 years of motor symptoms, 24% of participants met the criteria for MCI and 69% for dementia. 31678902 2020
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.100 GeneticVariation disease BEFREE Diagnosis of dementia at follow-up (obtained using clinical diagnostic criteria) constituted the reference standard, and all the included aMCI patients were divided into two groups: the aMCI converters (MCI-C) and MCI nonconverters (MCI-NC). 31744965 2020
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.100 Biomarker disease BEFREE Whilst the Look-AHEAD study found no impact on diagnosis of MCI or dementia, the LIFE study demonstrated beneficial effects on global cognitive function and delayed memory specifically in older adults with T2DM. 30825309 2020
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.100 Biomarker disease BEFREE We included 493 patients and controls from the Gothenburg MCI study and used the dementia groups for marker selection (CSF total-tau (T-tau), phospho-tau (P-tau), and amyloid-β42 (Aβ42), 11 neuropsychological tests, and 92 regional brain volumes) and to obtain cut-off values which were then applied to the MCI groups. 31815692 2020
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.100 Biomarker disease BEFREE Four studies suggest higher prevalence of MCI and neurodegenerative disease among NFL retirees, although a quantifiable risk and prevalence of cognitive impairment and dementia in these players remains unknown. 31592681 2020
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.100 Biomarker disease BEFREE Most of the participants who developed dementia were diagnosed at baseline with amnestic multidomain MCI. 31455461 2020
CUI: C0497327
Disease: Dementia
Dementia 		0.100 GeneticVariation disease BEFREE After 5 years of motor symptoms, 24% of participants met the criteria for MCI and 69% for dementia. 31678902 2020
CUI: C0497327
Disease: Dementia
Dementia 		0.100 Biomarker disease BEFREE Most of the participants who developed dementia were diagnosed at baseline with amnestic multidomain MCI. 31455461 2020
CUI: C0497327
Disease: Dementia
Dementia 		0.100 Biomarker disease BEFREE Four studies suggest higher prevalence of MCI and neurodegenerative disease among NFL retirees, although a quantifiable risk and prevalence of cognitive impairment and dementia in these players remains unknown. 31592681 2020
CUI: C0497327
Disease: Dementia
Dementia 		0.100 GeneticVariation disease BEFREE Diagnosis of dementia at follow-up (obtained using clinical diagnostic criteria) constituted the reference standard, and all the included aMCI patients were divided into two groups: the aMCI converters (MCI-C) and MCI nonconverters (MCI-NC). 31744965 2020
CUI: C0497327
Disease: Dementia
Dementia 		0.100 Biomarker disease BEFREE Whilst the Look-AHEAD study found no impact on diagnosis of MCI or dementia, the LIFE study demonstrated beneficial effects on global cognitive function and delayed memory specifically in older adults with T2DM. 30825309 2020
CUI: C0497327
Disease: Dementia
Dementia 		0.100 Biomarker disease BEFREE We included 493 patients and controls from the Gothenburg MCI study and used the dementia groups for marker selection (CSF total-tau (T-tau), phospho-tau (P-tau), and amyloid-β42 (Aβ42), 11 neuropsychological tests, and 92 regional brain volumes) and to obtain cut-off values which were then applied to the MCI groups. 31815692 2020
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		0.100 GeneticVariation disease BEFREE Diagnosis of dementia at follow-up (obtained using clinical diagnostic criteria) constituted the reference standard, and all the included aMCI patients were divided into two groups: the aMCI converters (MCI-C) and MCI nonconverters (MCI-NC). 31744965 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE This self-rating tool appears useful for identifying significant memory complaints in a normal population and may also be helpful in discriminating between functional/na-MCI and a-MCI/AD patients. 31382847 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE Twenty-nine healthy older adults and twenty-three with MCI due to Alzheimer's disease were included as controls, i.e. individuals with no evidence of Lewy body disease. 30900103 2019